G7S (p.Gly7Ser) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G7S (p.Gly7Ser) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- rs1006073064
- ClinGen CA67589465
- ClinVar RCV000592885
- TOPMed rs1006073064
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.12
- MetaLR 0.14
- MetaSVM -1.00
- PolyPhen-2 0.74
- SIFT 0.04
- MutPred 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available